Systematic review of outcomes of cochlear implantation of different genotypes in patients with auditory neuropathy spectrum disorder
Bibliographic record
Abstract
Abstract Background The diagnosis of auditory neuropathy spectrum disorder (ANSD) is based on the existence of cochlear microphonics or otoacoustic emissions, as well as aberrant or nonexistent-evoked auditory brainstem responses. The outcomes of cochlear implantation (CI) are thought to be significantly influenced by genetic reasons in ANSD. Objective The purpose of this systematic review was to gather more information regarding the relationship between various genetic variants and the outcomes of cochlear implantation in adult and pediatric patients with ANSD (both syndromic and non-syndromic). Methods Electronic databases “Medline/PubMed, Google Scholar, ScienceDirect, Europe PMC, and Cochrane Library” were searched for this systematic review. For cohort studies, the Newcastle–Ottawa scale (NOS score) was used to assess the quality of the retrieved research. The standardized mean difference produced by the Cohen’s d or Hedges’ g tests was used to assess the effect size measure. Results This comprehensive study showed that OTOF, GJB2, ATPA3, and OPA1 were among the genetic variants with improved CI outcomes. On the other hand, other genetic mutations displayed variable results (TMPRSS3) or worse CI outcomes (PJVK). For OTOF mutations, CI had a moderate effect (Hedges’ g = 0.7), which led to good cochlear implant outcomes. The results of the GJB2 cochlear implant showed a significant effect size when pre- and post-implant assessments were compared. The results of CI for TMPRSS3 mutations were inconsistent, with one study demonstrating a negligible effect (Hedges’ g = 0.2), and another study found a negative impact (Hedges’ g = − 2.17). Poor CI results were indicated by PJVK mutations impacting CI outcomes. A significant impact was observed when comparing pre- and postimplantation outcomes (Cohen’s d > 1) in cases of ATP1A3 mutations (CAPOS syndrome) and OPA1 mutations. In addition, early implantation produced better results than late implantation in certain genetic variations. Conclusion Some genetic variants, such as OTOF, GJB2, ATPA3, and OPA1, had improved CI outcomes, according to data extraction and synthesis of the systematic review’s findings. Conversely, PJVK displayed worse CI results and inconsistent results for TMPRSS3 genetic mutations.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.005 | 0.029 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.011 | 0.010 |
| Bibliometrics | 0.009 | 0.009 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.002 | 0.002 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.005 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".